How Rare is SAS

How rare is SATB2-associated syndrome (SAS)?

We do not know for certain how common or rare SAS may be. Studies that have screened for mutations (misspellings) of the SATB2 gene in babies with isolated cleft palate (roof the mouth), for example, have failed to identify cases. This means that SAS is probably not a common cause of isolated cleft palate, and we should look for other signs and symptoms to determine who may have SAS early on. As of June 2016, at least 40 patients with SAS have been well described in the medical literature. The number is higher if all the cases that have deletions (pieces missing) in chromosome 2 around the SATB2 gene are included. There are also other cases of SAS that have been mentioned in other publications but no clinical information was provided.

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